Full data view for gene MLH1


MLH1 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000249.3 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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Age at death     

VIP     

Data_av     

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Owner     
-/. - c.1959G>T r.(?) p.(Leu653=) Unknown - benign g.37090070G>T g.37048579G>T MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=), p.Leu653=), MLH1(NM_000249.4):c.1959G>T (p.L653=) - MLH1_000712 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1959G>T r.(?) p.(Leu653=) Unknown - likely benign g.37090070G>T g.37048579G>T MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=), p.Leu653=), MLH1(NM_000249.4):c.1959G>T (p.L653=) - MLH1_000712 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1959G>T r.(?) p.(Leu653=) Unknown - benign g.37090070G>T g.37048579G>T MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=), p.Leu653=), MLH1(NM_000249.4):c.1959G>T (p.L653=) - MLH1_000712 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1959G>T r.(?) p.(Leu653=) Unknown - benign g.37090070G>T g.37048579G>T MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=), p.Leu653=), MLH1(NM_000249.4):c.1959G>T (p.L653=) - MLH1_000712 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1959G>T r.(?) p.(Leu653=) Unknown - benign g.37090070G>T g.37048579G>T MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=), p.Leu653=), MLH1(NM_000249.4):c.1959G>T (p.L653=) - MLH1_000712 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1959G>T r.(?) p.(Leu653=) Unknown - benign g.37090070G>T g.37048579G>T MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=), p.Leu653=), MLH1(NM_000249.4):c.1959G>T (p.L653=) - MLH1_000712 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 17 c.1959G>T r.(?) p.(Leu653=) Unknown InSiGHT benign g.37090070G>T g.37048579G>T - - MLH1_000712 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 17 c.1959G>T r.(?) p.(Leu653=) Parent #1 - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 17 c.1959G>T r.(=) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 Submitted by ICCon South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
?/. 17 c.1959G>T r.(?) p.(Leu653=) Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 MLH1:c.655A>G (p.I219V), MLH1:c.1669-19A>G and MLH1:c.1959G>T (p.L653L). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(Leu653=) Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 multiple CRCs, BRAF +ve.Three heterozygous changes were observed in this patient, NM_000249.2: c.655A>G (p.I219V), c.1669-19A>G and c.1959G>T (p.L653L). Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(Leu653=) Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 MLH1:c.655A>G (p.Ile219Val) and c.1668-19A>G and c.1959G>T (p.Leu653Leu) Adrienne Sexton, Kirsty Mann - - Germline - - - - - DNA ? - - ? - - Sequencing& MLPA of PMS2 did not find mutation. PTT, Seq, MLPA of MLH1 = no mutation. PTT, MLPA of MSH2= no mutation;InSiGHT LOVDv2 ID:1016502;; Proband dx CRC 68y. Sib dx CRC 49y. Parent dx CRC 70y. - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.1959g>u p.= Parent #1 - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 This individual also has an alteration in MSH6 c.2611_2614dupATTA p.Ile872AsnfsX10 (see Supplementary Table 1). PubMed: Steinke 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T Partial Deletion of Exon 17 - MLH1_000712 - PubMed: Pagenstecher 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 17 c.1959G>T r.1959g>u p.= Parent #1 - VUS g.37090070G>T g.37048579G>T G -> T at 1959 - MLH1_000712 - PubMed: Bartosova 2003 - - Germline - - - - - DNA SEQ - - ? - - - ? - Slovakia (Slovak Republic) - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.1959g>u p.= Parent #1 - VUS g.37090070G>T g.37048579G>T G -> T at 1959 - MLH1_000712 - PubMed: Caldes 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.1959g>u p.= Parent #1 - VUS g.37090070G>T g.37048579G>T G -> T at 1959 - MLH1_000712 - Norbury (unpublished) 1999 - - Germline - - - - - DNA SEQ - - ? - - - ? - United Kingdom (Great Britain) - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.1959g>u p.= Parent #1 - VUS g.37090070G>T g.37048579G>T G -> Tat 1959 - MLH1_000712 - PubMed: Liu 1998 - - Germline - 0.0038 - - - DNA SEQ - - ? - - - ? - Sweden - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T L653L - MLH1_000712 - - - - Germline - - - - - DNA DHPLC, SEQ - - CRC - - - - - Netherlands - - - - - 1 Hans Gille
+/. 17 c.1959G>T r.1959g>u p.= Unknown - pathogenic g.37090070G>T g.37048579G>T L653L - MLH1_000712 {GR:374} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T L653L - MLH1_000712 {GR:374} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T L653L - MLH1_000712 {GR:374} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 17 c.1959G>T r.1959g>u p.= Unknown - pathogenic g.37090070G>T g.37048579G>T L653L - MLH1_000712 {GR:374} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T L653L - MLH1_000712 {GR:374} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T L653L - MLH1_000712 {GR:374} PubMed: Tournier 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T Authors only give protein change - MLH1_000712 - PubMed: Grabowski 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 - PubMed: Buerstedde 1995 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 - PubMed: Kamory 2003 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 - PubMed: Auclair 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 - PubMed: Velasco 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T a splice site - MLH1_000712 - PubMed: Scott 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 - PubMed: Fredriksson 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 - PubMed: Lamberti 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.1959g>u p.= Unknown - VUS g.37090070G>T g.37048579G>T - - MLH1_000712 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 17 c.1959G>T r.1959g>u p.= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant had no effect. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1959G>T r.(?) p.(Leu653=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Robert HaileTherese Teitsch - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Mark Jenkins John Hopper - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Noralane Lindor and Steve Thibodeau - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Polly Newcomb and John Potter - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Robert HaileTherese Teitsch - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Mark Jenkins John Hopper - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Noralane Lindor and Steve Thibodeau - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Polly Newcomb and John Potter - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Mark Jenkins John Hopper - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Robert HaileTherese Teitsch - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Noralane Lindor and Steve Thibodeau - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Polly Newcomb and John Potter - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - Steve Gallinger - - Germline - - - - - DNA SEQ - - ? - - 5 affected non-carriers - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(Leu653=) Unknown - VUS g.37090070G>T g.37048579G>T 1959G>T/N - MLH1_000712 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 17 c.1959G>T r.(?) p.(Leu653=) Unknown - VUS g.37090070G>T g.37048579G>T Het seq variant: 1959G>T. - MLH1_000712 - Desiree du Sart - - Germline - - - - - DNA SEQ - - ? - - Phx CRC at 46 EPCAM MLPA also neg.;InSiGHT LOVDv2 ID:1016428; - - - - - - - - 1 INSiGHT group
-/. 17 c.1959G>T r.(=) p.Leu653= Unknown - benign g.37090070G>T g.37048579G>T - - MLH1_000712 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Mother (74, dec.) had Breast Cancer at 65 years old; Mother (74, dec.) had Colorectal Cancer at 72 years old; Mother (74, dec.) had Primary Peritoneal Cancer at 71 years old; Sister (50, dec.) had Breast Cancer at 38 years old; Sister (66) had Kidney Cancer at 65 years old; Sister (66) had Thymoma at 65 years old; Sister (66) had Ovarian Cancer at 65 years old; Maternal grandfather (71, dec.) had Gastric Cancer at 70 years old; Paternal grandfather (83, dec.) had Breast Cancer at 65 years old; Brother (71) had Colorectal Cancer at 57 years old; Brother (71) had Bladder at 68 years old; Brother (71) had Prostate Cancer at 50 years old; Sister (66) has a mutation in KRAS F - - - - - - - 1 Jack Ji
-/. 17 c.1959G>T r.(=) p.(=) Unknown - benign g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 17 c.1959G>T r.(=) p.(=) Unknown - benign g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 17 c.1959G>T r.(=) p.(=) Unknown - benign g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 17 c.1959G>T r.(=) p.(=) Unknown - benign g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-?/. 17 c.1959G>T r.(=) p.(=) Unknown - likely benign g.37090070G>T g.37048579G>T 1959G>T - MLH1_000712 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 17 c.1959G>T r.1959g>u p.= Unknown - NA g.37090070G>T g.37048579G>T L653L - MLH1_000712 {GR:374} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 17 c.1959G>T r.1959g>u p.= Unknown - NA g.37090070G>T g.37048579G>T L653L - MLH1_000712 {GR:374} PubMed: Auclair 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1959G>T r.(?) p.(Leu653=) Unknown - benign g.37090070G>T g.37048579G>T MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=), p.Leu653=), MLH1(NM_000249.4):c.1959G>T (p.L653=) - MLH1_000712 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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